Canonical Allele Identifier: CA1433068456

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002002C= , CM000666.2:g.1002002C=	GRCh38
NC_000004.11:g.995790C= , CM000666.1:g.995790C=	GRCh37
NC_000004.10:g.985790C=	NCBI36
NG_008103.1:g.20006C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.813C=	ENSP00000247933.4:p.Ser271=
ENST00000514224.2:c.813C= MANE Select	ENSP00000425081.2:p.Ser271=
ENST00000652070.1:n.869C=
ENST00000247933.8:c.813C=	ENSP00000247933.4:p.Ser271=
ENST00000502910.5:c.672C=	ENSP00000422952.1:p.Ser224=
ENST00000514192.5:c.630C=	ENSP00000423685.1:p.Ser210=
ENST00000514224.1:c.417C=	ENSP00000425081.1:p.Ser139=
ENST00000514698.5:n.813C=
NM_000203.4:c.813C=	NP_000194.2:p.Ser271=
NR_110313.1:n.901C=
XM_006713882.2:c.417C=	XP_006713945.1:p.Ser139=
XM_011513459.1:c.772C=	XP_011511761.1:p.His258=
XM_011513460.1:c.672C=	XP_011511762.1:p.Ser224=
XM_011513461.1:c.606C=	XP_011511763.1:p.Ser202=
XM_011513462.1:c.525C=	XP_011511764.1:p.Ser175=
XM_011513463.1:c.525C=	XP_011511765.1:p.Ser175=
XR_924947.1:n.882C=
NM_000203.5:c.813C= MANE Select	NP_000194.2:p.Ser271=
NM_001363576.1:c.417C=	NP_001350505.1:p.Ser139=
XM_011513461.2:c.606C=	XP_011511763.1:p.Ser202=
XM_017008163.1:c.-148C=	XP_016863652.1:n.-148C=